rs2158177
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435042.1(TH2LCRR):n.95-6084T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.177 in 152,202 control chromosomes in the GnomAD database, including 2,539 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000435042.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TH2LCRR | NR_132125.1 | n.105-6084T>C | intron_variant, non_coding_transcript_variant | ||||
TH2LCRR | NR_132126.1 | n.174+7353T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH2LCRR | ENST00000435042.1 | n.95-6084T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
TH2LCRR | ENST00000458509.1 | n.105-6084T>C | intron_variant, non_coding_transcript_variant | 1 | |||||
TH2LCRR | ENST00000417516.1 | n.174+7353T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.177 AC: 26960AN: 152084Hom.: 2536 Cov.: 32
GnomAD4 genome ? AF: 0.177 AC: 26977AN: 152202Hom.: 2539 Cov.: 32 AF XY: 0.179 AC XY: 13304AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at